rs80357993

minus

Geno	Mag	Summary
(-;AG)	6	BRCA1 variant considered pathogenic for breast cancer
(AG;AG)	0	Normal

Make rs80357993(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091760

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357993
dbSNP (classic)	rs80357993
ClinGen	rs80357993
ebi	rs80357993
HLI	rs80357993
Exac	rs80357993
Gnomad	rs80357993
Varsome	rs80357993
LitVar	rs80357993
Map	rs80357993
PheGenI	rs80357993
Biobank	rs80357993
1000 genomes	rs80357993
hgdp	rs80357993
ensembl	rs80357993
geneview	rs80357993
scholar	rs80357993
google	rs80357993
pharmgkb	rs80357993
gwascentral	rs80357993
openSNP	rs80357993
23andMe	rs80357993
SNPshot	rs80357993
SNPdbe	rs80357993
MSV3d	rs80357993
GWAS Ctlg	rs80357993

Status

Merged into rs80357579

Max Magnitude

6

rs80357993, also known as 3889delAG, c.3770_3771delAG and p.Glu1257Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357993(AG;AG)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41243777_41243778delCT
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000031127.10, RCV000048325.5, RCV000131814.3, RCV000235232.1,